Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-05-29

AUTHORS

Xander Nuttle, Andy Itsara, Jay Shendure, Evan E Eichler

ABSTRACT

An approach to localizing breakpoints with sequence-level precision employing massively parallel sequencing performed on libraries generated from haplotype-resolved chromosomes, genomic DNA, or molecular inversion probe–captured informative regions harboring paralog-distinguishing variants.

PAGES

1496-1513

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  • 2009-08-30. Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing in NATURE GENETICS
  • 2013-07-28. Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion in NATURE METHODS
  • 2007. Oligonucleotide Array Comparative Genomic Hybridization in COMPARATIVE GENOMICS
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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nprot.2014.096

    DOI

    http://dx.doi.org/10.1038/nprot.2014.096

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1044452566

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24874815


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